ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.5447G>A (p.Cys1816Tyr)

gnomAD frequency: 0.00029  dbSNP: rs138639220
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001461663 SCV001665567 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
GeneDx RCV001461663 SCV002030936 uncertain significance not provided 2023-01-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004038606 SCV004850607 uncertain significance Inborn genetic diseases 2020-10-29 criteria provided, single submitter clinical testing The c.5447G>A (p.C1816Y) alteration is located in exon 27 (coding exon 26) of the C5orf42 gene. This alteration results from a G to A substitution at nucleotide position 5447, causing the cysteine (C) at amino acid position 1816 to be replaced by a tyrosine (Y). Based on data from the Genome Aggregation Database (gnomAD) database, the C5orf42 c.5447G>A alteration was observed in 0.01% (26/282708) of total alleles studied, with a frequency of 0.1% (25/24968) in the African subpopulation. This amino acid position is not conserved in available vertebrate species. The p.C1816Y alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038230 SCV005670411 uncertain significance Orofaciodigital syndrome type 6; Joubert syndrome 17 2024-05-11 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.